Fatal systemic carnitine deficiency with lipid storage in skeletal muscle, heart, liver and kidney

Hypoglycemia, Hepatic Dysfunction, Muscle Weakness, Cardiomyopathy, Free Carnitine Deficiency and Long-Chain Acylcarnitine Excess Responsive to Medium Chain Triglyceride Diet

“…Ala, alanine ALT, alanine aminotransferase AST, aspartate aminotransferase CPK, creatine kinase hGH, human growth hormone LA, left atrium LPEP/LVET, left pre-ejection period/left ventricular ejection time P-OHB, beta-hydroxybutyrate RPEP/RVET, right pre-ejection period/right ventricular ejection time LVED, left ventricular end diastolic dimension LVES, left ventricular end systolic dimension MCT, medium chain triglyceride PC, pyruvate carboxylase PEPCK, phosphoenol phosphate carboxykinase U, units Hepatic long-chain acyl CoA carnitine transferase deficiency (4), multiple acyl CoA dehydrogenase deficiency (glutaric aciduria type 11) (18), and systemic carnitine deficiency (3,9,12,17,24,37,43), all of which are associated with impaired fatty acid oxidation, have hypoglycemia as a major clinical manifestation.…”

Anaesthetic management of labour and delivery in the parturient with mitochondrial myopathy

“…Rapid progression of muscle weakness was also noted after pregnancy in a woman with carnitine deficiency which led to cardio-respiratory failure and death. 10 Anaesthetic management of the parturient with mitochondrial myopathy presenting for Caesarean section should begin with a thorough review of the patient's history, physical examination and previous investigations, preferably in consultation with the attending internist. The preoperative assessment will thus give a clear indication of vital organ function and reserve.…”

Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case.

“…Both these patients had intermittent episodes of hepatic enlargement and insufficiency, and intermittent attacks of metabolic acidosis. One of the two patients died, and at necropsy was found to have massive accumulation of triglycerides in skeletal muscle fibres, hepatocytes, and renal tubular epithelial cells, and a patchy increase of lipid material in the myocardial fibres (Boudin et al, 1976). Thus, in these two patients, a defect in hepatic synthesis had resulted in systemic carnitine deficiency.…”

“…Seven instances of carnitine deficiency have been reported to date (Engel and Angelini, 1973;Markesbery et al, 1974;Vandyke et al, 1975;Smyth et al, 1975;Karpati et al, 1975;Angelini et al, 1976;Boudin et al, 1976). In four of these the serum carnitine level was normal or only slightly decreased Markesbery et al, 1974;Vandyke et al, 1975;Angelini et al, 1976), strongly suggesting that hepatic synthesis was intact, and that the transport mechanism was at fault.…”

“…In two other patients both muscle and liver carnitine levels were depressed (Karpati et al, 1975;Boudin et al, 1976); in one of these the serum carnitine level was also measured, and was abnormally low (Karpati et al, 1975). Both these patients had intermittent episodes of hepatic enlargement and insufficiency, and intermittent attacks of metabolic acidosis.…”